New Syndrome Discovered
Aug 15, 2009 | Posted by in Featured, News | 0 Comments
Scientists have discovered a new syndrome, called MEDNIK, after studying the genetics of Canadian families.
Believed to be caused by a mutation of the gene AP1S1, the condition is named as an acronym of its six defining symptoms.
They include mental retardation, enteropathy, deafness, neuropathy in peripheral regions, ichthyosis and keratodermia.
Scientists from the educational institution add that it is believed such ailments arise due to damage caused to neural networks.
In addition to the brain and spinal cord, damage to the inner ear has been listed as an area from which MEDNIK can originate.
The new syndrome was witnessed as occurring in a selection of families in the Quebec region, all of whom share a common ancestor.
Research from the Mayo Clinic previously identified a link between obstructive sleep apnoea and non-arteritic anterior ischemic optic neuropathy (NAION).
NAION occurs when a loss of vision happens suddenly and without pain in one eye, often noticed when the individual wakes.
But the event could have basic health implications due to its association with disrupted or blocked breathing during sleep.